家族性大腸腺腫症

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000038.6(APC):c.2894del (p.Asn965fs)	APC	Pathogenic	5	112174183	112174183	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658760846
single nucleotide variant	NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter)	APC	Pathogenic	5	112175077	112175077	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029636
Indel	NM_000038.6(APC):c.4363_4365delinsGCTGA (p.Asn1455fs)	APC	Pathogenic	5	112175654	112175656	AAT	GCTGA	criteria provided, single submitter	ClinGen:CA658796568
Deletion	NM_000038.6(APC):c.5772del (p.Lys1924fs)	APC	Pathogenic	5	112177061	112177061	TA	T	criteria provided, single submitter	ClinGen:CA658760800
Deletion	NM_000038.6(APC):c.3179_3183del (p.Ile1060fs)	APC	Pathogenic	5	112174467	112174471	GAAATA	G	criteria provided, single submitter	ClinGen:CA658760882
single nucleotide variant	NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)	APC	Pathogenic	5	112174814	112174814	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029073
Deletion	NM_000038.6(APC):c.3604_3607del (p.Ser1202fs)	APC	Pathogenic	5	112174895	112174898	ATCTG	A	criteria provided, single submitter	ClinGen:CA658796581
Duplication	NM_000038.6(APC):c.4389dup (p.Glu1464fs)	APC	Pathogenic	5	112175679	112175680	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796571
Deletion	NC_000005.10:g.(?_112737024)_(112766416_?)del	APC	Pathogenic	5	112072721	112102113	na	na	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.108del (p.Lys36fs)	APC	Pathogenic	5	112090692	112090692	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796565